Results 71 to 80 of about 3,328,553 (209)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

The Drosophila melanogaster Genetic Reference Panel

Nature, 2012
A major challenge of biology is understanding the relationship between molecular genetic variation and variation in quantitative traits, including fitness.
T. Mackay, S. Richards, Eric A. Stone, A. Barbadilla, J. Ayroles, Dianhui Zhu, Sònia Casillas, Yi Han, M. Magwire, J. Cridland, M. Richardson, R. Anholt, Maite G. Barrón, Crystal Bess, K. Blankenburg, M. A. Carbone, David Castellano, Lesley S. Chaboub, Laura H. Duncan, Zeke Harris, Mehwish Javaid, J. Jayaseelan, S. Jhangiani, K. Jordan, F. Lara, Faye Lawrence, Sandy Lee, P. Librado, Raquel Linheiro, R. F. Lyman, A. Mackey, Mala Munidasa, D. Muzny, L. Nazareth, I. Newsham, Lora Perales, ling-ling Pu, Carson Qu, Miquel Ràmia, Jeffrey G. Reid, S. Rollmann, J. Rozas, Nehad I. Saada, Lavanya Turlapati, K. Worley, Yuanqing Wu, A. Yamamoto, Yiming Zhu, C. Bergman, Kevin R. Thornton, D. Mittelman, R. Gibbs   +51 more
semanticscholar   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Genetic variation in IL28B and spontaneous clearance of hepatitis C virus

Nature, 2009
Hepatitis C virus (HCV) infection is the most common blood-borne infection in the United States, with estimates of 4 million HCV-infected individuals in the United States and 170 million worldwide.
David L. Thomas, C. Thio, Maureen P. Martin, Y. Qi, D. Ge, C. O’hUigin, J. Kidd, K. Kidd, S. Khakoo, G. Alexander, J. Goedert, G. Kirk, S. Donfield, H. Rosen, L. Tobler, M. Busch, J. Mchutchison, D. Goldstein, M. Carrington   +18 more
semanticscholar   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Polimorfismos do gene da interleucina-13 nas posições -1055 C/T e +2044 G/A em pacientes com carcinoma espinocelular de cabeça e pescoço Interleukin-13 gene polymorphisms at -1055 C/T and +2044 G/A positions in patients with squamous cell carcinoma of head and neck

Brazilian Journal of Otorhinolaryngology, 2012
O carcinoma espinocelular (CEC) é a neoplasia mais comum do trato aerodigestivo superior. A interleucina-13 (IL-13) é uma citocina imunorreguladora com polimorfismos relatados para seu gene associados com a mesma doença, especialmente asma e alergia.
Bijan Khademi, Seyed Basir Hashemi, Abbass Ghaderi, Ali Shahrestani, Mohammad Mohammadianpanah   +4 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Polymorphism of peripheral blood T cell receptor β chain variable region in patients with clinically isolated syndrome

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
Objective To investigate the polymorphism of T cell receptor β chain variable region (TCRVβ) in peripheral blood of clinically isoiated syndrome (CIS) patients. To preliminarily predict the specific TCRVβ fragment of CIS and its diagnostic value for CIS.
Yan WU, Ji⁃hong ZHANG, Hui⁃qing DONG, Da⁃wei LI, Zheng LIU, Sui⁃gui WAN   +5 more
doaj  

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source